Have a personal or library account? Click to login
Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy Cover

Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy

Open Access
|Jul 2012

References

  1. Löscher W, Klotz U, Zimprich F, Schmidt D. The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia. 2009; 50(1): 1-23.10.1111/j.1528-1167.2008.01716.x
  2. Yu FH, Catterall WA. Overview of the voltage-gated sodium channel family. Genome Biol. 2003; 4(3): 207.10.1186/gb-2003-4-3-207
  3. George AL Jr. Inherited disorders of voltage-gated sodium channels. J Clin Invest. 2005; 115(8): 1990-1999.10.1172/JCI25505
  4. Plummer NW, Meisler MH. Evolution and diversity of mammalian sodium channel genes. Genomics. 1999; 57(2): 323-331.10.1006/geno.1998.5735
  5. Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci USA. 2005; 102(15): 5507-5512.10.1073/pnas.0407346102
  6. Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, Cavalleri GL, Sisodiya SM, Goldstein DB, Liou HH. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics. 2006; 16(10): 721-726.10.1097/01.fpc.0000230114.41828.73
  7. Abe T, Seo T, Ishitsu T, Nakagawa T, Hori M, Nakagawa K. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol. 2008; 66(2): 304-307.10.1111/j.1365-2125.2008.03203.x
  8. Zimprich F, Stogmann E, Bonelli S, Baumgartner C, Mueller JC, Meitinger, T, Zimprich A, Strom TM. A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy. Epilepsia. 2008; 49(6): 1108-1109.10.1111/j.1528-1167.2008.01549_4.x
  9. Heinzen EL, Yoon W, Tate SK, Sen A, Wood NW, Sisodiya SM, Goldstein DB. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet. 2007; 80(5): 876-883.10.1086/516650
  10. Thompson CH, Kahlig KM, George AL Jr. SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia. 2011; 52(5): 1000-1009.10.1111/j.1528-1167.2011.03040.x
  11. Sánchez MB, Herranz JL, Leno C, Arteaga R, Oterino A, Valdizán EM, Nicolás JM, Adín J, Armijo JA. Genetic factors associated with drug-resistance of epilepsy: relevance of stratification by patient age and aetiology of epilepsy. Seisure. 2010; 19(2): 93-101.10.1016/j.seizure.2009.12.004
  12. Manna I, Gambardella A, Bianchi A, Striano P, Tozzi R, Aguglia U, Beccaria F, Benna P, Campostrini R, Canevini MP, Condino F, Durisotti C, Elia M, Giallonardo AT, Iudice A, Labate A, La Neve A, Michelucci R, Muscas GC, Paravidino R, Zaccara G, Zucca C, Zara F, Perucca E. A functional polymorphism in the SCN1A gene does not infl uence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia. 2011; 52(5): 1528-1167.10.1111/j.1528-1167.2011.03097.x
  13. Depondt C. The potential of pharmacogenetics in the treatment of epilepsy. Eur J Paediatr Neurol. 2006; 10(2): 57-65.10.1016/j.ejpn.2005.11.009
Language: English
Page range: 19 - 24
Published on: Jul 20, 2012
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2012 Z Sterjev, G Kiteva, E Cvetkovska, I Petrov, I Kuzmanovski, T Ribarska, K Nestorovska, N Matevska, S Trajkovik-Jolevska, A Dimovski, Lj Suturkova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 15 (2012): Issue 1 (June 2012)